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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosomal Microarray

Genetics Laboratory Shodair Children's Hospital
United States
71
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, Part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Wiedemann-Steiner syndrome, 605130, Autosomal dominant; WDSTS (Wiedemann-Steiner syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Wiedemann-Steiner syndrome, 605130, Autosomal dominant; WDSTS (Wiedemann-Steiner syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Wiedemann-Steiner syndrome, 605130, Autosomal dominant; WDSTS (Wiedemann-Steiner syndrome) (KMT2A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Wiedemann-Steiner syndrome, 605130, Autosomal dominant; WDSTS (Wiedemann-Steiner syndrome) (KMT2A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, Part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 42

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.